Winged scapula in patients with myotonic dystrophy type 1

Tadanori Hamano; Tatsuro Mutoh; Mikio Hirayama; Hidemasa Uematsu; Itsuro Higuchi; Hiroshi Koga; Fujio Umehara; Kiyonobu Komai; Masaru Kuriyama

doi:10.1016/j.nmd.2012.04.010

Winged scapula in patients with myotonic dystrophy type 1

Tadanori Hamano
, Tatsuro Mutoh
, Mikio Hirayama
, Hidemasa Uematsu
, Itsuro Higuchi
, Hiroshi Koga
, Fujio Umehara
, Kiyonobu Komai
, Masaru Kuriyama

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

6 被引用数 (Scopus)

抄録

We report two patients with myotonic dystrophy type 1 (DM1) showing winged scapula in a single family. Genomic analysis revealed a marked expansion of CTG repeats in the 3' untranslated region; 1100 in patient 1 and 667 in patient 2. Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size. One of the patients showed ragged red fibers in muscles of the biceps brachii. To our knowledge, this is the first report of typical winged scapula in DM1.

本文言語	英語
ページ（範囲）	755-758
ページ数	4
ジャーナル	Neuromuscular Disorders
巻	22
号	8
DOI	https://doi.org/10.1016/j.nmd.2012.04.010
出版ステータス	出版済み - 08-2012
外部発表	はい

All Science Journal Classification (ASJC) codes

小児科学、周産期医学および子どもの健康
神経学
臨床神経学
遺伝学（臨床）

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10.1016/j.nmd.2012.04.010

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title = "Winged scapula in patients with myotonic dystrophy type 1",

abstract = "We report two patients with myotonic dystrophy type 1 (DM1) showing winged scapula in a single family. Genomic analysis revealed a marked expansion of CTG repeats in the 3' untranslated region; 1100 in patient 1 and 667 in patient 2. Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size. One of the patients showed ragged red fibers in muscles of the biceps brachii. To our knowledge, this is the first report of typical winged scapula in DM1.",

author = "Tadanori Hamano and Tatsuro Mutoh and Mikio Hirayama and Hidemasa Uematsu and Itsuro Higuchi and Hiroshi Koga and Fujio Umehara and Kiyonobu Komai and Masaru Kuriyama",

year = "2012",

month = aug,

doi = "10.1016/j.nmd.2012.04.010",

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T1 - Winged scapula in patients with myotonic dystrophy type 1

AU - Hamano, Tadanori

AU - Mutoh, Tatsuro

AU - Hirayama, Mikio

AU - Uematsu, Hidemasa

AU - Higuchi, Itsuro

AU - Koga, Hiroshi

AU - Umehara, Fujio

AU - Komai, Kiyonobu

AU - Kuriyama, Masaru

PY - 2012/8

Y1 - 2012/8

N2 - We report two patients with myotonic dystrophy type 1 (DM1) showing winged scapula in a single family. Genomic analysis revealed a marked expansion of CTG repeats in the 3' untranslated region; 1100 in patient 1 and 667 in patient 2. Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size. One of the patients showed ragged red fibers in muscles of the biceps brachii. To our knowledge, this is the first report of typical winged scapula in DM1.

AB - We report two patients with myotonic dystrophy type 1 (DM1) showing winged scapula in a single family. Genomic analysis revealed a marked expansion of CTG repeats in the 3' untranslated region; 1100 in patient 1 and 667 in patient 2. Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size. One of the patients showed ragged red fibers in muscles of the biceps brachii. To our knowledge, this is the first report of typical winged scapula in DM1.

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UR - https://www.scopus.com/pages/publications/84863870221#tab=citedBy

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DO - 10.1016/j.nmd.2012.04.010

M3 - Article

C2 - 22683376

AN - SCOPUS:84863870221

SN - 0960-8966

VL - 22

SP - 755

EP - 758

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 8

ER -

Winged scapula in patients with myotonic dystrophy type 1

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All Science Journal Classification (ASJC) codes

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